8253 results for "canc*"

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• NGS in FACSorted populations from AML patients

  FACS-enriched bone marrow cell populations from 22 AML patients were analyzed using a custom panel targeting 56 genes recurrently mutated in myeloid neoplasms. DNA was released from a median of 60,000 sorted cells by incubation with 2.5 μL proteinase K and 2 μL RNase A (Thermo Fisher Scientific) for 30 minutes at 37°C, purified using 2× AMPure XP beads (Beckman Coulter, Brea, CA), and stored in pH 8 elution buffer at −20°C. DNA quantity was measured using the Qubit dsDNA BR Assay on a Qubit 3.0 fluorometer (Thermo Fisher Scientific), and quality was assessed using the Genomic DNA ScreenTape assay on a 4200 TapeStation system (Agilent Technologies, Santa Clara, CA). Libraries were prepared from at least 20 ng of DNA according to the SOPHiA GENETICS protocol and sequenced on an Illumina MiSeq using 2 × 251-cycle paired-end reads. At least 95% of target bases achieved ≥1,000× coverage. FASTQ files were analyzed in SOPHiA DDM using the GRCh37/hg19 reference genome for alignment, variant calling, and annotation. Variants were retained when the variant allele frequency was ≥2%, coverage was ≥100 reads, and the alternate allele was supported on both strands. Synonymous, intronic, intergenic, 5′ untranslated-region, and recurrent panel-artifact calls were excluded. The remaining variants were classified according to Association for Molecular Pathology and American College of Medical Genetics and Genomics guidance using VarSome, ClinVar, COSMIC, and dbSNP. Only pathogenic or likely pathogenic variants were analyzed. All retained calls were visually confirmed in Integrative Genomics Viewer v2.11.3, and only variants previously reported as somatic in hematopoietic or myeloid neoplasms were retained.

  Study EGAS50000002132

• Single-Cell Multiomic and Whole-Genome Profiling of Primary and Metastatic Colorectal Cancer

  This study contains controlled-access single-cell multiomic sequencing (scRNA-seq and scATAC-seq) data generated from patients with colorectal cancer, including 33 primary tumours, 11 metastatic lesions, and 7 adjacent normal tissue samples. Whole-genome sequencing (WGS) data are available for the tumour samples. These data were generated to investigate the genomic and epigenomic landscape of colorectal cancer and to identify recurrent regulatory alterations associated with tumour progression and metastasis.

  Study EGAS50000002048

• Weizmann Breast Cancer Epigenetics Data Access Committee

  Data Access Committee responsible for reviewing requests for controlled access to human sequencing data generated in the study "Epigenetic Heterogeneity in Breast Tumors with Implications for Disease Diagnosis and Monitoring".

  Dac EGAC50000001136

• Committee of human data related to Livanova et al. paper submission

  This DAC controls access to single-cell multiomic (scRNA-seq and scATAC-seq) and matched whole-genome sequencing (WGS) data generated from colorectal cancer patient samples, including 33 primary tumours, 11 metastatic lesions, 7 adjacent normal tissues. The data were generated to investigate recurrent somatic chromatin accessibility alterations (SCAAs) associated with tumour progression and metastasis

  Dac EGAC50000001117

• UNICORN Visium HD spatial transcriptomics of colorectal cancer

  This controlled-access dataset contains raw paired-end sequencing data generated from 56 human colorectal cancer tissue samples using the 10x Genomics Visium HD spatial gene expression workflow. The dataset comprises 324 paired-end sequencing runs represented by 648 FASTQ files. Libraries were sequenced on an Illumina platform and are intended for spatial transcriptomic analysis of the colorectal cancer tissue microenvironment.

  Dataset EGAD50000002908

• Transcriptome Sequencing Data of High Grade Serous Ovarian Cancer

  Study EGAS00001004714

• Long-read whole genome sequencing of gastric cancer

  Gastric cancer (GC) remains a significant health challenge globally, with a particularly high incidence in Asia, including Singapore. Understanding the genomic landscape of normal gastric and the different GC subtypes along with its precursor lesions such as intestinal metaplasia (IM) as well as GC metastatic sites is crucial for advancing diagnostics, prognostics, and therapeutics. Long-read sequencing technologies offer an opportunity to delve deeper into the genomic and epigenetic alterations underlying these conditions and to complement existing short-read omics data. By integrating these data with previously generated in-house multi-omics data (such as RNA sequencing and whole exome sequencing), we hope to better elucidate the molecular mechanism underlying GC initiation and progression.

  Study EGAS50000001607

• NoSarC -- Norwegian Sarcoma Consortium. Towards individualized therapy for orphan cancer.

  This study is initiated and conducted by the Norwegian Sarcoma Consortium - a collaboration between 5 Norwegian hospitals and universities, coordinated by Oslo University Hospital. The NoSarC project was initiated in 2014 and aimed to perform molecular characterization of samples from a national, population-based cohort of sarcoma patients, to identify tumors which are sensitive to therapies already developed and approved for more common cancers. The NoSarC cohort in this study consists of Tumor-Normal pairs from 287 subjects that has been Whole Exome Sequenced.

  Study EGAS50000002163

• Recommended Text: Plasma cfChIP-seq profiling of cell-free nucleosomes in Small-Cell Lung Cancer and neuroendocrine carcinomas

  This dataset contains raw, encrypted Crypt4GH paired-end Fastq files from cell-free chromatin immunoprecipitation sequencing (cfChIP-seq) targeting histone modification H3K4me3 in plasma samples. The cohort includes small-cell lung cancer (SCLC) cases, neuroendocrine carcinomas (NEC) and non-small-cell lung cancer (NSCLC) samples. Access is restricted exclusively to non-commercial, duplicate-prevention SCLC research protocols approved by the Data Access Committee.

  Dataset EGAD50000002783

• Integrating transcriptional regulatory networks with chromatin accessibility as markers of survival outcome and drug response in triple-negative breast cancer

  Patients with triple-negative breast cancer (TNBC), a highly aggressive and heterogeneous breast cancer subtype, have limited effective targeted therapy options and frequently develop resistance to chemotherapy. Transcription regulators (TRs) guided precision medicine, namely anti-estrogen receptor therapy, has proven successful in hormone-dependent breast cancer, but remains a challenge in TNBC. Here, we identified key TRs underlying TNBC identity by combining a transcriptional interaction network with chromatin accessibility and defined TR activity score metrics. We show that the activity scores of these TRs independently discriminate patient outcome across different clinical endpoints. Matching TR activity scores to drug sensitivity identified drug-TR pairs across independent datasets, including NFE2L3 and CBFB activity associated with sensitivity to mTOR inhibition, which we validated using a cohort of TNBC patient-derived xenografts. Collectively, we present methodology to promote TR-guided precision medicine that captures inter-tumor heterogeneity in TNBC and nominates drug sensitivities according to TR activity scores inferred from expression and chromatin accessibility data.

  Study EGAS50000001691

• METABRIC miRNA landscape

  MicroRNAs (miRNAs) are key players in cancer pathogenesis1. They display differential expression across breast cancer subtypes, and play oncogenic and tumor-suppressive roles2-6. A systematic study of the global miRNA landscape in breast cancer and the factors shaping it has not been undertaken. Here we report the results of profiling miRNA expression in 1,302 breast tumors with detailed clinical annotation and long-term follow-up, and for which matching genomic and mRNA expression data were available7. This provides a comprehensive view of the quantity, distribution and variation of the miRNA population and dissects how much genomic, transcriptional and post-transcriptional events contribute to miRNA expression architecture. The key clinical parameters and cellular pathways related to the miRNA landscape are identified, exemplified by context-dependent interaction with cell adhesion and Wnt signaling. Strikingly, in breast cancer miRNAs appear to act as modulators of mRNA-mRNA interactions rather than molecular switches. We demonstrate an important modulatory role for miRNAs in the biology of breast tumors devoid of somatic copy number aberrations, a common subtype where immune response is prominent. Remarkably, prognostic miRNA signatures derived in this subtype are consistently prognostic across several other subtypes and validate in external cohorts. These findings represent a new framework to study the biology of miRNA in human cancer.

  Study EGAS00000000122

• SCANDARE HNSCC

  Prospective biobanking study in SCANDARE HNSCC (Head and Neck Squamous Cell Carcinoma) patients aiming at better understand the link between the molecular alterations of the tumor itself, its microenvironment and immune response.

  Study EGAS50000001158

• DAC for RNAseq data associated with transcriptomic profiling of ER alpha positive breast cancer patients before and after endocrine therapy

  This Data Access Committee (DAC) oversees access to RNAseq data collected as part of a study focussed on exploring transcriptomic profiles of ER alpha positive breast cancer patients who were treated with aromatase inhibitors for up to three months before surgical removal of the primary tumor. Sampling was performed at diagnosis and at surgery, and RNA-seq was performed. The DAC ensures that data access requests comply with the study's ethical and legal frameworks and that data is shared for non-commercial, academic research purposes under controlled access to protect participant privacy.

  Dac EGAC50000000499

• Transcriptomics profiling of paired pre- and post- neo-adjuvant endocrine therapy of ERa positive breast cancers

  Patients were treated with aromatase inhibitors for up to three months before surgical removal of the primary tumor. Sampling was performed at diagnosis and at surgery, and RNA-seq was performed.

  Study EGAS50000000832

• Colossus Project Single-nuclei RNA sequencing

  Single-nuclei RNA sequencing of human colorectal cancer samples. Nuclei were isolated on ice, followed by single-nuclei RNA-sequencing library preparation using the Chromium Single Cell 3’ reagent kit v3.1 (10x Genomics, Pleasanton, CA) Fastq files, N=18

  Dataset EGAD50000003002

• Colossus Project Whole exome sequencing

  Whole exome sequencing of colorectal cancer samples from stage 2/3 human patients. Whole-genome DNA libraries were prepared with the KAPA HyperPlus kit (Roche, Cape Town, South Africa), and exome fragments were captured using the SureSelect Human All Exon V7 kit (Agilent, Hangzhou, China) Fastq files, N=88

  Dataset EGAD50000003003

• Colossus Project Bulk Tumor RNA sequencing

  Bulk RNA sequencing of colorectal cancer samples from stage 2/3 human patients. RNA extraction using Qiagen RNeasy FFPE Extraction kit (Qiagen, UK), followed by RNA sequencing library generation with the QuantSeq 3' mRNA-Seq Library Prep Kit (FWD) (Illumina, USA). Fastq files, N=295

  Dataset EGAD50000003004

• Colossus Project Whole Genome Sequencing

  Low-coverage whole genome sequencing of colorectal cancer samples from stage 2/3 human patients. Tumor DNA from biopsies was extracted using the QIAamp circulating nucleic acid kit (Qiagen, UK), followed by generation of shot-gun whole genome libraries using the KAPA library preparation kit (KAPA Biosystems). Fastq files, N=295

  Dataset EGAD50000003005

• Expansion and cytotoxicity of mucosal T cells in enterocolitis associated with BCMA CAR-T cell therapy

  This study investigates immune effector cell enterocolitis (IEC-EC) associated with ciltacabtagene autoleucel (cilta-cel), a B-cell maturation antigen (BCMA)-targeting chimeric antigen receptor (CAR) T-cell therapy for relapsed or refractory multiple myeloma. IEC-EC was characterized by infiltration and expansion of clonal CAR-positive cytotoxic T-cell populations within the gastrointestinal tract. Molecular analyses were performed to characterize CAR T-cell clonality, persistence, vector integration, and genomic alterations associated with this complication. This dataset contains whole-genome sequencing (WGS) and whole-exome sequencing (WES) FASTQ files generated as part of the study and associated with the corresponding manuscript.

  Study EGAS50000002146

• Circulating tumour DNA in oligoprogressing metastatic castration-resistant prostate cancer treated with stereotactic body radiotherapy in the TRAP trial

  The TRAP trial (NCT03644303) reported that stereotactic body radiotherapy (SBRT) of up to two imaging-visible metastases in prostate cancer patients showing disease progression whilst continuing an androgen receptor pathway inhibitor (ARPI) improved outcomes. It is possible that the benefit from treatment is heterogeneous and patients with progressing sub-clinical metastases, not detected by imaging, derived no benefit from this intervention. The goal of this study was to determine if ctDNA levels detected before SBRT associates with worse outcome.

  Study EGAS50000002152

• Breast Cancer Atlas Research Consortium (BCARC)

  The Breast Cancer Atlas Research Consortium (BCARC) is an international translational research programme building a multi-modal atlas of breast cancer across subtypes, disease progression states, and treatment phases. Founding investigators span the Swarbrick Laboratory (Garvan Institute of Medical Research, Sydney), the Perou Laboratory (University of North Carolina at Chapel Hill), the Grimmond Laboratory (University of Melbourne Centre for Cancer Research), the Al'Khafaji Laboratory (Broad Institute of MIT and Harvard), and the Lundeberg Laboratory (KTH Royal Institute of Technology, Stockholm). Samples are drawn from primary and metastatic breast tumours together with matched adjacent tissues and where available, blood samples. All samples derive from participants consented under Garvan-approved research protocols. Access is controlled and governed by the BCARC data access agreement; requests are reviewed by the Data Access Committee named in the associated policy record

  Study EGAS00001008520

• Germline whole-genome sequencing (WGS) of colorectal cancer patients

  Whole-genome sequencing (WGS) data generated from matched germline blood DNA samples obtained from patients with primary or metastatic colorectal adenocarcinoma (n=37). These data were generated as part of a multiomic study integrating whole-genome sequencing with single-cell multiome profiling to investigate recurrent epigenetic alterations in colorectal cancer evolution and the tumour microenvironment.

  Dataset EGAD50000002942

• Whole Genome Sequencing (WGS) of Tumour Samples of Primary and Metastatic Colorectal Cancer

  WGS samples of primary (n=33) and metastatic (n=11) colorectal cancer tissues related to Livanova et al. manuscript 'Epigenetic evolution of colorectal cancer and its microenvironment reveals new vulnerabilities'

  Dataset EGAD50000002943

• Single-cell 10x Genomics Multiome ATAC-seq data from primary and metastatic colorectal cancers and normal colon tissues

  This dataset contains single-cell 10x Genomics Multiome ATAC-seq data from 33 primary colorectal cancer, 11 metastatic colorectal cancer, and 7 matched normal colon tissue samples generated as part of the study "Epigenetic evolution of colorectal cancer and its microenvironment reveals novel vulnerabilities."

  Dataset EGAD50000002944

• Single-cell 10x Genomics Multiome RNA-seq data from primary and metastatic colorectal cancers and normal colon tissues

  This dataset contains single-cell 10x Genomics Multiome RNA-seq data from 33 primary colorectal cancer, 11 metastatic colorectal cancer, and 7 matched normal colon tissue samples generated as part of the study "Epigenetic evolution of colorectal cancer and its microenvironment reveals novel vulnerabilities."

  Dataset EGAD50000002945